Loss-of-function or gain-of-function variations in VINCULIN (VCL) are risk factors of human neural tube defects.

Yalan WangYue QinRui PengHongyan Wang

Published in: Molecular genetics & genomic medicine (2021)

Our study reports human NTD specific novel variations in VCL and provides the functional evaluation of VCL variants related to the etiology of human NTDs.

Keyphrases

endothelial cells
risk factors
induced pluripotent stem cells
pluripotent stem cells
emergency department